I've been living with a disease called cystinosis. There's only about
2,000 people in the world that have it, and it affects the whole
body, all your organs your eyes, muscles, everything. I was
diagnosed at eight months old and basically been living with it my whole life.
Cystinosis is due to a genetic defect that leads to the abnormal
accumulation of cystine in all the cells of a body. So, progressively the
organs start to be injured and eventually they will fail. And because of
that the patient requires kidney transplantation. They can have blindness,
muscle weakness, diabetes... I mean so many complications with time occur.
I started this project in 2017. My goal was always to do a gene therapy.
When we found the gene, we realized that it was expressed everywhere, in every
single cell. And it was not a protein that was secreted, so it was even more
complicated for gene therapy. To be able to bring a healthy gene to every single
tissue in the body, I was thinking that the only solution to do that is to use
our bone marrow stem cells. So what we do is "gene-correct" the cells in a
dish, then once they are gene-corrected, we transplant them them back to the patient.
We came back September 21st, and then got admitted into the Jacobs Medical Center [at UC San Diego Health],
and I was there for about a month and then they introduced the new cells on October 7th.
And now it's just a waiting game to see if it's working.
When we opened this clinical trial, he responded and volunteered and quickly
expressed a lot of interest and he has been very intelligent and very
rational about all these processes, understanding everything, understanding the risk.
And so being the first is the most scary part because you
don't know what you will go through, you don't even know if you
will have any benefits of [the therapy], so I think it's very brave. It was so
nice to be able to talk to him in a scientific way, or try to
understand how we could improve things, how we could do things
differently. So it has been a very a great learning curve for both of us.
It gives me hope, gives me a chance for a cure and
basically I remember before we started the trial, my mom explained, and
she's like "we have a tsunami in the back and a tornado in the front," and if I
don't do the trial now, when I'm 40 or 50 years old who
knows how healthy I'll be, I might not be strong, might not be able to do my job.
And if I do the trial, yeah, there's consequences from the chemotherapy like mucositis
all that stuff, but if it works I could live another 20 years than I'm supposed to
and be healthy for the rest of my life.